Related Experiment Video
Updated: Aug 12, 2025
07:45
An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
Published on: October 21, 2014
8.0K
Infantile Metachromatic Leukodystrophy (MLD): A Rare Case
Varsha Gajbhiye1, Yashwant Lamture2, Punam Uke1
1Pediatrics, Jawaharlal Nehru Medical College, Wardha, IND.
Cureus
|February 2, 2023
Summary
Metachromatic leukodystrophy (MLD) is a genetic disorder affecting white matter. Early detection through prenatal and newborn screening is crucial for effective management of this rare lysosomal storage disease.
Area of Science:
- Neuroscience
- Genetics
- Biochemistry
Background:
- Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal sphingolipid storage disease.
- It primarily affects the white matter of the brain and nervous system.
- Early symptoms include learning disabilities and behavioral changes, progressing to gait and balance issues.
Observation:
- A case study of a 2.5-year-old boy with no prenatal screening presented with progressive lower limb weakness and loss of speech.
- The patient exhibited regression in motor skills and communication abilities.
- Family history indicated consanguinity, a potential risk factor for genetic disorders.
Findings:
- Magnetic Resonance Imaging (MRI) revealed periventricular leukodystrophy, a characteristic finding in MLD.
- Diagnostic indicators include low arylsulfatase A (ARSA) activity, elevated urinary sulphatides, and specific MRI patterns like the trigonid pattern.
- The observed symptoms and MRI findings strongly suggested MLD.
Implications:
- This case highlights the importance of prenatal and newborn genetic screening for MLD.
- Early diagnosis enables timely intervention, potentially improving patient outcomes and management efficacy.
- Increased awareness and screening can lead to earlier detection of MLD in at-risk populations.
Related Concept Videos
01:22Lysosomal Hydrolases
3.9K
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
3.9K
01:20Inborn Errors of Metabolism
218
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
218